SDHB, succinate dehydrogenase complex iron sulfur subunit B, 6390
N. diseases: 316; N. variants: 130
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
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0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 17018938 | frameshift variant | -/C | ins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 17018943 | frameshift variant | -/C | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 17028623 | frameshift variant | -/C | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 17022687 | frameshift variant | -/CGCCTCTGTGAAG | delins | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 1 | 17033135 | frameshift variant | -/G | delins | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 1 | 17044835 | frameshift variant | A/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 17 | 2005 | 2018 | |||||||
|
0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 17024017 | missense variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 1982 | 2015 | ||||||||
|
0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2006 | 2012 | ||||||||
|
0.882 | 0.080 | 1 | 17028691 | frameshift variant | AG/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 17024007 | frameshift variant | C/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 2006 | 2015 | ||||||
|
0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 16 | 2003 | 2016 | |||||||
|
0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 11 | 2003 | 2016 | |||||||
|
0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 10 | 2006 | 2013 | |||||||
|
0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 2006 | 2012 | ||||||||
|
0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.080 | 1 | 17022723 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 6 | 2007 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 17044756 | splice region variant | C/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 |